Incidental Mutation 'R9112:Lrrc8a'
ID |
692281 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc8a
|
Ensembl Gene |
ENSMUSG00000007476 |
Gene Name |
leucine rich repeat containing 8A VRAC subunit A |
Synonyms |
ebo, Lrrc8, SWELL1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9112 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30145782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 199
(S199T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095078]
[ENSMUST00000113654]
[ENSMUST00000139454]
|
AlphaFold |
Q80WG5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095078
AA Change: S199T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092690 Gene: ENSMUSG00000007476 AA Change: S199T
Domain | Start | End | E-Value | Type |
Pfam:Pannexin_like
|
1 |
340 |
1.4e-146 |
PFAM |
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
internal_repeat_1
|
461 |
526 |
7.6e-5 |
PROSPERO |
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
LRR
|
590 |
613 |
5.41e0 |
SMART |
LRR
|
614 |
636 |
3.18e2 |
SMART |
LRR
|
638 |
660 |
6.78e1 |
SMART |
LRR_TYP
|
661 |
684 |
1.06e-4 |
SMART |
LRR
|
685 |
706 |
1.15e1 |
SMART |
LRR_TYP
|
707 |
730 |
1.92e-2 |
SMART |
LRR
|
731 |
751 |
1.81e2 |
SMART |
LRR
|
753 |
776 |
2.02e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113654
AA Change: S199T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109284 Gene: ENSMUSG00000007476 AA Change: S199T
Domain | Start | End | E-Value | Type |
Pfam:DUF3733
|
1 |
65 |
3.3e-32 |
PFAM |
Pfam:DUF3733
|
97 |
156 |
2e-22 |
PFAM |
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
internal_repeat_1
|
461 |
526 |
7.6e-5 |
PROSPERO |
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
LRR
|
590 |
613 |
5.41e0 |
SMART |
LRR
|
614 |
636 |
3.18e2 |
SMART |
LRR
|
638 |
660 |
6.78e1 |
SMART |
LRR_TYP
|
661 |
684 |
1.06e-4 |
SMART |
LRR
|
685 |
706 |
1.15e1 |
SMART |
LRR_TYP
|
707 |
730 |
1.92e-2 |
SMART |
LRR
|
731 |
751 |
1.81e2 |
SMART |
LRR
|
753 |
776 |
2.02e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139454
AA Change: S199T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139038 Gene: ENSMUSG00000099041 AA Change: S199T
Domain | Start | End | E-Value | Type |
Pfam:DUF3733
|
1 |
65 |
3.3e-32 |
PFAM |
Pfam:DUF3733
|
97 |
156 |
2e-22 |
PFAM |
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
low complexity region
|
445 |
455 |
N/A |
INTRINSIC |
internal_repeat_1
|
461 |
526 |
7.6e-5 |
PROSPERO |
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
LRR
|
590 |
613 |
5.41e0 |
SMART |
LRR
|
614 |
636 |
3.18e2 |
SMART |
LRR
|
638 |
660 |
6.78e1 |
SMART |
LRR_TYP
|
661 |
684 |
1.06e-4 |
SMART |
LRR
|
685 |
706 |
1.15e1 |
SMART |
LRR_TYP
|
707 |
730 |
1.92e-2 |
SMART |
LRR
|
731 |
751 |
1.81e2 |
SMART |
LRR
|
753 |
776 |
2.02e-1 |
SMART |
|
Meta Mutation Damage Score |
0.0786 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (56/56) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,100,806 (GRCm39) |
S181G |
possibly damaging |
Het |
5730596B20Rik |
A |
G |
6: 52,156,413 (GRCm39) |
R160G |
unknown |
Het |
Acy1 |
A |
G |
9: 106,311,952 (GRCm39) |
Y262H |
probably benign |
Het |
Adamts13 |
T |
C |
2: 26,880,379 (GRCm39) |
S681P |
possibly damaging |
Het |
Adgra3 |
C |
A |
5: 50,118,395 (GRCm39) |
C1051F |
probably damaging |
Het |
Afp |
T |
C |
5: 90,652,289 (GRCm39) |
|
probably null |
Het |
Agrn |
A |
T |
4: 156,261,514 (GRCm39) |
V568E |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,987,149 (GRCm39) |
E2811G |
probably damaging |
Het |
Ap1m1 |
C |
A |
8: 72,994,066 (GRCm39) |
Y7* |
probably null |
Het |
Apobec1 |
T |
A |
6: 122,555,837 (GRCm39) |
T207S |
probably benign |
Het |
Arhgap32 |
G |
A |
9: 32,157,309 (GRCm39) |
R102Q |
probably damaging |
Het |
Bcat2 |
T |
C |
7: 45,237,446 (GRCm39) |
|
probably null |
Het |
Cd209f |
T |
A |
8: 4,155,802 (GRCm39) |
|
probably benign |
Het |
Cox7c |
G |
A |
13: 86,194,837 (GRCm39) |
|
probably benign |
Het |
Cyp2d11 |
A |
G |
15: 82,276,203 (GRCm39) |
V156A |
possibly damaging |
Het |
Dhrs3 |
A |
T |
4: 144,653,769 (GRCm39) |
T297S |
probably benign |
Het |
Dip2c |
T |
C |
13: 9,660,766 (GRCm39) |
C876R |
probably damaging |
Het |
Eprs1 |
A |
T |
1: 185,129,273 (GRCm39) |
I587F |
probably damaging |
Het |
Fam13c |
A |
G |
10: 70,286,978 (GRCm39) |
T81A |
probably benign |
Het |
Flt4 |
A |
G |
11: 49,524,064 (GRCm39) |
Y548C |
probably damaging |
Het |
Garin2 |
T |
C |
12: 78,757,202 (GRCm39) |
|
probably null |
Het |
Gimap4 |
T |
A |
6: 48,667,629 (GRCm39) |
V128E |
probably benign |
Het |
Gm32742 |
A |
G |
9: 51,060,735 (GRCm39) |
L856P |
possibly damaging |
Het |
Gm5916 |
A |
G |
9: 36,032,258 (GRCm39) |
Y59H |
probably damaging |
Het |
Gnai3 |
A |
T |
3: 108,030,990 (GRCm39) |
H57Q |
|
Het |
Golga3 |
G |
T |
5: 110,333,757 (GRCm39) |
R131L |
probably benign |
Het |
Gpc6 |
A |
T |
14: 117,424,088 (GRCm39) |
I59F |
probably benign |
Het |
H2bc6 |
T |
C |
13: 23,769,753 (GRCm39) |
M63V |
possibly damaging |
Het |
Herc6 |
T |
C |
6: 57,596,604 (GRCm39) |
S515P |
probably damaging |
Het |
Ift74 |
T |
C |
4: 94,575,103 (GRCm39) |
I518T |
probably benign |
Het |
Kat6b |
T |
C |
14: 21,675,256 (GRCm39) |
S474P |
possibly damaging |
Het |
Klhl3 |
A |
C |
13: 58,248,212 (GRCm39) |
I28S |
unknown |
Het |
Klrh1 |
T |
A |
6: 129,743,697 (GRCm39) |
I196F |
probably benign |
Het |
Lipi |
A |
G |
16: 75,359,159 (GRCm39) |
F259S |
probably damaging |
Het |
Map2 |
T |
A |
1: 66,472,723 (GRCm39) |
C1709* |
probably null |
Het |
Mrgprf |
A |
G |
7: 144,861,503 (GRCm39) |
S22G |
probably benign |
Het |
Myo1e |
G |
T |
9: 70,274,983 (GRCm39) |
R712L |
probably benign |
Het |
Nras |
A |
T |
3: 102,967,658 (GRCm39) |
N85Y |
probably benign |
Het |
Or4a71 |
C |
T |
2: 89,358,337 (GRCm39) |
C139Y |
probably damaging |
Het |
Or5b3 |
A |
T |
19: 13,388,475 (GRCm39) |
I181F |
probably benign |
Het |
Or6ae1 |
A |
G |
7: 139,742,660 (GRCm39) |
S68P |
|
Het |
Or9q2 |
T |
C |
19: 13,772,780 (GRCm39) |
H65R |
probably damaging |
Het |
Pcp2 |
T |
A |
8: 3,674,638 (GRCm39) |
|
probably benign |
Het |
Pigv |
T |
C |
4: 133,392,079 (GRCm39) |
R364G |
probably benign |
Het |
Plekhh3 |
T |
A |
11: 101,061,625 (GRCm39) |
S30C |
probably damaging |
Het |
Poglut3 |
A |
G |
9: 53,295,530 (GRCm39) |
Y44C |
probably damaging |
Het |
Pramel11 |
A |
C |
4: 143,623,334 (GRCm39) |
V280G |
possibly damaging |
Het |
Pramel51 |
C |
T |
12: 88,144,055 (GRCm39) |
A261T |
possibly damaging |
Het |
Rhof |
T |
C |
5: 123,258,571 (GRCm39) |
|
probably benign |
Het |
Rufy3 |
A |
T |
5: 88,780,336 (GRCm39) |
E361D |
|
Het |
Serpina1b |
T |
C |
12: 103,698,699 (GRCm39) |
D50G |
probably benign |
Het |
Sgsm2 |
G |
A |
11: 74,756,222 (GRCm39) |
Q376* |
probably null |
Het |
Slc18b1 |
A |
T |
10: 23,692,262 (GRCm39) |
I246F |
probably damaging |
Het |
Slc38a9 |
A |
T |
13: 112,850,777 (GRCm39) |
N387I |
probably damaging |
Het |
Synrg |
C |
G |
11: 83,862,409 (GRCm39) |
P35A |
probably damaging |
Het |
Tdrp |
T |
C |
8: 14,005,796 (GRCm39) |
K42E |
probably damaging |
Het |
Trappc10 |
A |
C |
10: 78,029,201 (GRCm39) |
M1112R |
probably damaging |
Het |
Ube2e1 |
A |
G |
14: 18,285,203 (GRCm38) |
V90A |
probably damaging |
Het |
Vwde |
C |
A |
6: 13,205,051 (GRCm39) |
V277F |
possibly damaging |
Het |
Zfyve16 |
A |
G |
13: 92,659,563 (GRCm39) |
M116T |
possibly damaging |
Het |
|
Other mutations in Lrrc8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00693:Lrrc8a
|
APN |
2 |
30,145,327 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01161:Lrrc8a
|
APN |
2 |
30,145,822 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01419:Lrrc8a
|
APN |
2 |
30,147,111 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01757:Lrrc8a
|
APN |
2 |
30,145,537 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02390:Lrrc8a
|
APN |
2 |
30,146,713 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02608:Lrrc8a
|
APN |
2 |
30,146,311 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02938:Lrrc8a
|
APN |
2 |
30,145,698 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02960:Lrrc8a
|
APN |
2 |
30,147,025 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03139:Lrrc8a
|
APN |
2 |
30,145,683 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03166:Lrrc8a
|
APN |
2 |
30,145,377 (GRCm39) |
missense |
probably benign |
|
R0033:Lrrc8a
|
UTSW |
2 |
30,145,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R0033:Lrrc8a
|
UTSW |
2 |
30,145,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Lrrc8a
|
UTSW |
2 |
30,146,800 (GRCm39) |
missense |
possibly damaging |
0.54 |
R0432:Lrrc8a
|
UTSW |
2 |
30,147,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R0751:Lrrc8a
|
UTSW |
2 |
30,146,362 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1924:Lrrc8a
|
UTSW |
2 |
30,145,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Lrrc8a
|
UTSW |
2 |
30,146,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R3852:Lrrc8a
|
UTSW |
2 |
30,151,972 (GRCm39) |
missense |
probably benign |
0.30 |
R4898:Lrrc8a
|
UTSW |
2 |
30,147,214 (GRCm39) |
missense |
probably benign |
0.00 |
R5175:Lrrc8a
|
UTSW |
2 |
30,145,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:Lrrc8a
|
UTSW |
2 |
30,145,366 (GRCm39) |
missense |
probably benign |
0.09 |
R5874:Lrrc8a
|
UTSW |
2 |
30,147,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6228:Lrrc8a
|
UTSW |
2 |
30,146,565 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6406:Lrrc8a
|
UTSW |
2 |
30,147,103 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6456:Lrrc8a
|
UTSW |
2 |
30,145,486 (GRCm39) |
missense |
probably benign |
0.14 |
R6833:Lrrc8a
|
UTSW |
2 |
30,145,659 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6834:Lrrc8a
|
UTSW |
2 |
30,145,659 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6945:Lrrc8a
|
UTSW |
2 |
30,146,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R7675:Lrrc8a
|
UTSW |
2 |
30,145,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R8500:Lrrc8a
|
UTSW |
2 |
30,146,208 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8528:Lrrc8a
|
UTSW |
2 |
30,145,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R8734:Lrrc8a
|
UTSW |
2 |
30,146,619 (GRCm39) |
missense |
probably benign |
0.12 |
R8879:Lrrc8a
|
UTSW |
2 |
30,146,310 (GRCm39) |
missense |
probably benign |
0.16 |
R9130:Lrrc8a
|
UTSW |
2 |
30,147,042 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9456:Lrrc8a
|
UTSW |
2 |
30,145,663 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrrc8a
|
UTSW |
2 |
30,146,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGCCTGTAGCAACTTC -3'
(R):5'- ATGGTCTGCCGCATGTACAG -3'
Sequencing Primer
(F):5'- GCCTGTAGCAACTTCTGGTTCAAG -3'
(R):5'- TACAGGCGGTACACAATGTC -3'
|
Posted On |
2021-12-30 |